The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle ... See more...

Aliases for ZBTB42 Gene

Aliases for ZBTB42 Gene

  • Zinc Finger And BTB Domain Containing 42 2 3 5
  • Zinc Finger And BTB Domain-Containing Protein 42 3 4
  • ZNF925 2 3
  • ZBTB42 5
  • LCCS6 3

External Ids for ZBTB42 Gene

Previous GeneCards Identifiers for ZBTB42 Gene

  • GC00U921814
  • GC14U900765
  • GC14P104339
  • GC14P105266
  • GC14P085448

Summaries for ZBTB42 Gene

Entrez Gene Summary for ZBTB42 Gene

  • The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

GeneCards Summary for ZBTB42 Gene

ZBTB42 (Zinc Finger And BTB Domain Containing 42) is a Protein Coding gene. Diseases associated with ZBTB42 include Lethal Congenital Contracture Syndrome 6 and Lethal Congenital Contracture Syndrome. An important paralog of this gene is ZBTB18.

UniProtKB/Swiss-Prot Summary for ZBTB42 Gene

  • Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBTB42 Gene

Genomics for ZBTB42 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZBTB42 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J104793 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.5 -2.8 -2840 9 BRCA1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF692 ZNF7 AKT1 ZBTB42 lnc-AHNAK2-8 MTA1 SIVA1 INF2 AB372635 lnc-AHNAK2-7
GH14J104784 Enhancer 1 Ensembl ENCODE dbSUPER 4.7 -13.7 -13653 7.4 PRDM10 ZNF692 ZIC2 RBFOX2 ZNF600 ZNF341 ZFX ZBTB20 CTCF BCL11A SIVA1 PPP1R13B CLBA1 ZBTB42 AKT1 lnc-AHNAK2-7 lnc-AHNAK2-9
GH14J104805 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 0.7 +4.4 4398 2.3 HNRNPL ZBTB33 PRDM10 ZNF629 RFX1 IKZF1 ZNF692 JUND ZIC2 ZSCAN4 piR-38416 AKT1 ADSS1 ZBTB42 piR-55985-051 CEP170B
GH14J104814 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +15.4 15442 3.2 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 SIX5 ZNF692 POLR2A LINC00638 ENSG00000279140 MTA1 ENSG00000257270 CDCA4 TMEM121 PACS2 CEP170B CRIP2 piR-61945-151
GH14J104803 Promoter/Enhancer 0.7 Ensembl dbSUPER 0.7 +2.5 2547 0.2 ZIC2 ESR1 GLIS1 piR-51836 piR-38416 ZBTB42 CEP170B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB42 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB42

Top Transcription factor binding sites by QIAGEN in the ZBTB42 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for ZBTB42 Gene

Genomic Locations for ZBTB42 Gene
chr14:104,800,554-104,804,712
(GRCh38/hg38)
Size:
4,159 bases
Orientation:
Plus strand
chr14:105,266,933-105,271,049
(GRCh37/hg19)
Size:
4,117 bases
Orientation:
Plus strand

Genomic View for ZBTB42 Gene

Genes around ZBTB42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB42 Gene

Proteins for ZBTB42 Gene

  • Protein details for ZBTB42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RXF5-ZBT42_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 42
    Protein Accession:
    B2RXF5
    Secondary Accessions:
    • B7ZW21

    Protein attributes for ZBTB42 Gene

    Size:
    422 amino acids
    Molecular mass:
    46491 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZBTB42 Gene

Post-translational modifications for ZBTB42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZBTB42 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZBTB42 Gene

Domains & Families for ZBTB42 Gene

Gene Families for ZBTB42 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZBTB42 Gene

Suggested Antigen Peptide Sequences for ZBTB42 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger and BTB domain-containing protein 42 (ZBT42_HUMAN)

Graphical View of Domain Structure for InterPro Entry

B2RXF5

UniProtKB/Swiss-Prot:

ZBT42_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
genes like me logo Genes that share domains with ZBTB42: view

Function for ZBTB42 Gene

Molecular function for ZBTB42 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.

Phenotypes From GWAS Catalog for ZBTB42 Gene

Gene Ontology (GO) - Molecular Function for ZBTB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB42: view
genes like me logo Genes that share phenotypes with ZBTB42: view

Human Phenotype Ontology for ZBTB42 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB42

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB42 Gene

Localization for ZBTB42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB42 Gene

Cytoplasm. Nucleus. Nucleus, nucleoplasm. Note=In skeletal myofibers, highly enriched in subsynaptic nuclei at the neuromuscular junctions. {ECO:0000250 UniProtKB:Q811H0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZBTB42 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZBTB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 21193930
GO:0005654 nucleoplasm ISS --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ZBTB42: view

Pathways & Interactions for ZBTB42 Gene

PathCards logo

SuperPathways for ZBTB42 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0007517 muscle organ development IMP 25055871
genes like me logo Genes that share ontologies with ZBTB42: view

No data available for Pathways by source and SIGNOR curated interactions for ZBTB42 Gene

Drugs & Compounds for ZBTB42 Gene

No Compound Related Data Available

Transcripts for ZBTB42 Gene

mRNA/cDNA for ZBTB42 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB42

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB42 Gene

No ASD Table

Relevant External Links for ZBTB42 Gene

GeneLoc Exon Structure for
ZBTB42

Expression for ZBTB42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB42 Gene

mRNA differential expression in normal tissues according to GTEx for ZBTB42 Gene

This gene is overexpressed in Pancreas (x4.5).

Protein differential expression in normal tissues from HIPED for ZBTB42 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZBTB42 Gene



Protein tissue co-expression partners for ZBTB42 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZBTB42

SOURCE GeneReport for Unigene cluster for ZBTB42 Gene:

Hs.170853

mRNA Expression by UniProt/SwissProt for ZBTB42 Gene:

B2RXF5-ZBT42_HUMAN
Tissue specificity: Expressed in skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for ZBTB42 Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB42 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with ZBTB42: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ZBTB42 Gene

Orthologs for ZBTB42 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB42 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZBTB42 30 31
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZBTB42 31
  • 89 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ZBTB42 30 31
  • 81.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zbtb42 30 17 31
  • 78.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zbtb42 30
  • 78.04 (n)
Oppossum
(Monodelphis domestica)
Mammalia ZBTB42 31
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZBTB42 31
  • 53 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZBTB42 31
  • 50 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ZBTB42 31
  • 40 (a)
OneToOne
Species where no ortholog for ZBTB42 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZBTB42 Gene

ENSEMBL:
Gene Tree for ZBTB42 (if available)
TreeFam:
Gene Tree for ZBTB42 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB42: view image

Paralogs for ZBTB42 Gene

Variants for ZBTB42 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB42 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
741991 Likely Benign: not provided 104,801,401(+) C/T SYNONYMOUS_VARIANT
746127 Likely Benign: not provided 104,802,163(+) C/T SYNONYMOUS_VARIANT
768678 Benign: not provided 104,802,421(+) C/T SYNONYMOUS_VARIANT
780159 Benign: not provided 104,802,403(+) C/T SYNONYMOUS_VARIANT
789824 Benign: not provided 104,802,174(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZBTB42 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZBTB42 Gene

Variant ID Type Subtype PubMed ID
dgv3953n54 CNV gain 21841781
dgv3957n54 CNV loss 21841781
dgv3958n54 CNV loss 21841781
esv3635627 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv1069824 CNV deletion 25765185
nsv1143618 CNV deletion 24896259
nsv470677 CNV loss 18288195
nsv511544 CNV loss 21212237
nsv517038 CNV loss 19592680
nsv566057 CNV gain+loss 21841781
nsv566069 CNV loss 21841781
nsv566073 CNV loss 21841781
nsv952271 CNV deletion 24416366

Variation tolerance for ZBTB42 Gene

Gene Damage Index Score: 2.64; 45.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB42 Gene

Human Gene Mutation Database (HGMD)
ZBTB42
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB42 Gene

Disorders for ZBTB42 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZBTB42 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 6
  • lccs6
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
polyhydramnios
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZBT42_HUMAN
  • Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. {ECO:0000269 PubMed:25055871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZBTB42

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZBTB42: view

No data available for Genatlas for ZBTB42 Gene

Publications for ZBTB42 Gene

  1. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (PMID: 25055871) Patel N … Alkuraya FS (Human molecular genetics 2014) 3 4
  2. Characterization of the ZBTB42 gene in humans and mice. (PMID: 21193930) Devaney SA … Hoffman EP (Human genetics 2011) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ZBTB42 Gene

Sources for ZBTB42 Gene